rs28935496
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs28935496(C;T) |
| Make rs28935496(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 153905843 |
| Gene | AVPR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28935496 |
| dbSNP (classic) | rs28935496 |
| ClinGen | rs28935496 |
| ebi | rs28935496 |
| HLI | rs28935496 |
| Exac | rs28935496 |
| Gnomad | rs28935496 |
| Varsome | rs28935496 |
| LitVar | rs28935496 |
| Map | rs28935496 |
| PheGenI | rs28935496 |
| Biobank | rs28935496 |
| 1000 genomes | rs28935496 |
| hgdp | rs28935496 |
| ensembl | rs28935496 |
| geneview | rs28935496 |
| scholar | rs28935496 |
| rs28935496 | |
| pharmgkb | rs28935496 |
| gwascentral | rs28935496 |
| openSNP | rs28935496 |
| 23andMe | rs28935496 |
| SNPshot | rs28935496 |
| SNPdbe | rs28935496 |
| MSV3d | rs28935496 |
| GWAS Ctlg | rs28935496 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28935496(T;T) |
| Alt | rs28935496(T;T) |
| Reference | Rs28935496(C;C) |
| Significance | Pathogenic |
| Disease | Nephrogenic diabetes insipidus |
| Variation | info |
| Gene | AVPR2 |
| CLNDBN | Nephrogenic diabetes insipidus, X-linked |
| Reversed | 0 |
| HGVS | NC_000023.10:g.153171297C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011587.3, |
